ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)

gnomAD frequency: 0.00117  dbSNP: rs141575859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997230 SCV000842085 likely benign not specified 2024-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711698 SCV001039387 likely benign not provided 2025-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000711698 SCV001713134 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756019 SCV005356639 likely benign FLVCR1-related disorder 2024-08-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.